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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Lourenço, Charles M; Pessoa, Andre; Mendes, Carmen C; Rivera-Nieto, Carolina; Vergara, Diane; Troncoso, Mónica; Gardner, Emily; Mallorens, Francisca; Tavera, Lina; Lizcano, Luis A; Atanacio, Nora; Guelbert, Norberto; Specola, Norma; Mancilla, Nury; de Souza, Carolina F M; Mole, Sara E.
Afiliação
  • Lourenço CM; School of Medicine, Estácio University Center, Ribeirão Preto, São Paulo, Brazil.
  • Pessoa A; Pediatric Neurology Service, Albert Sabin Children's Hospital, University of Ceará State, Fortaleza, Ceará, Brazil.
  • Mendes CC; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Rivera-Nieto C; Medical Genetic Service, Fundación Cardioinfantil, Bogotá, Colombia.
  • Vergara D; Service of Children Neuropsychiatry, San Borja Arriarán Hospital, School of Medicine of the University of Chile, Santiago, Chile.
  • Troncoso M; Service of Children Neuropsychiatry, San Borja Arriarán Hospital, School of Medicine of the University of Chile, Santiago, Chile.
  • Gardner E; UCL MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom.
  • Mallorens F; Medical Genetics Section, Hospital Nacional Prof. A. Posadas, Buenos Aires, Argentina.
  • Tavera L; Foundation Neuroconexion, Armenia, Colombia.
  • Lizcano LA; Human Genetic Service, Bogotá, Colombia.
  • Atanacio N; Dr. N.A Chamoles Laboratory, Pedro de Elizalde Children's Hospital, Buenos Aires, Argentina.
  • Guelbert N; Metabolic Disease Section, Corboda Children's Hospital, Buenos Aires, Argentina.
  • Specola N; Metabolic Unit, Children Hospital of La Plata, Buenos Aires, Argentina.
  • Mancilla N; Department of Paediatrics, National University of Colombia, Bogotá, Colombia.
  • de Souza CFM; Medical Genetic Service, Porto Alegre Clinic Hospital, Porto Alegre, Brazil.
  • Mole SE; UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
J Paediatr Child Health ; 57(4): 519-525, 2021 04.
Article em En | MEDLINE | ID: mdl-33377563
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Aged / Child / Child, preschool / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Paediatr Child Health Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Aged / Child / Child, preschool / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Paediatr Child Health Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Brasil